Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

We report seven individuals with an early-onset spastic-ataxia phenotype.

Source: The American Journal of Human Genetics - June 1, 2017 Category: Genetics & Stem Cells Authors: Viorica Chelban, Nisha Patel, Jana Vandrovcova, M. Natalia Zanetti, David S. Lynch, Mina Ryten, Juan A. Bot ía, Oscar Bello, Eloise Tribollet, Stephanie Efthymiou, Indran Davagnanam, SYNAPSE Study Group, Fahad A. Bashiri, Nicholas W. Wood, James E. Rothm Tags: Report Source Type: research